Varaico: Literature-Extracted Genetic Variants

Gene:PAMR1
Variant:p.E2K

PAMR1

54 papers

Pfam Domains

CUBaa 88–193UCSCCUB domain
EGFaa 199–230UCSCEGF-like domain
Sushiaa 240–302UCSCSushi repeat (SCR repeat)
Sushiaa 350–402UCSCSushi repeat (SCR repeat)
Trypsinaa 412–675UCSCTrypsin

Gene Aliases

HGNC Name

peptidase domain containing associated with muscle regeneration 1

HGNC Alias Symbol

DKFZP586H2123

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001991.3
p.E2K
c.4G>A
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